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Hirschsprung disease

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https://www.readbyqxmd.com/read/28930629/large-scale-replication-study-identified-multiple-independent-snps-in-ret-synergistically-associated-with-hirschsprung-disease-in-southern-chinese-population
#1
Yan Zhang, Qiuming He, Ruizhong Zhang, Hong Zhang, Wei Zhong, Huimin Xia
Hischsprung disease (HSCR) is an intestinal disorder with strong genetic components. RET was considered as the strongest contributor. Multiple single nucleotide polymorphisms (SNP) were demonstrated as associated with HSCR in different populations. However, whether the associations of reported SNPs derived from one causal variants or congregations of multiple variants were still not clear. In this study, we successfully genotyped 16 SNPs in RET with a largest case-control study to date, totaling 1470 HSCR and 1473 control subjects in South Chinese population...
September 20, 2017: Aging
https://www.readbyqxmd.com/read/28927976/quality-of-life-outcomes-in-children-with-hirschsprung-disease
#2
Lucy Collins, Brennan Collis, Misel Trajanovska, Rija Khanal, John M Hutson, Warwick J Teague, Sebastian K King
BACKGROUND: Morbidity following repair of Hirschsprung disease (HD) is common. However, quality of life (QoL) results focused on HD children are contradictory. We aimed to measure QoL outcomes in HD children using validated questionnaires. METHODS: Patients with HD, managed at a large tertiary pediatric institution between 2004 and 2013, were identified. Parents completed validated questionnaires. Results were compared with published healthy population controls...
September 2, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28924375/lncrna-afap1-as-functions-as-a-competing-endogenous-rna-to-regulate-rap1b-expression-by-sponging-mir-181a-in-the-hscr
#3
Guanglin Chen, Lei Peng, Zhongxian Zhu, Chunxia Du, Ziyang Shen, Rujin Zang, Yang Su, Yankai Xia, Weibing Tang
Background: Long noncoding RNAs (lncRNAs) have recently emerged as important regulators in a broad spectrum of cellular processes including development and disease. Despite the known engagement of the AFAP1-AS in several human diseases, its biological function in Hirschsprung disease (HSCR) remains elusive. Methods: We used qRT-PCR to detect the relative expression of AFAP1-AS in 64 HSCR bowel tissues and matched normal intestinal tissues. The effects of AFAP1-AS on cell proliferation, migration, cell cycle, apoptosis and cytoskeletal organization were evaluated using CCK-8, transwell assay, flow cytometer analysis and immunofluorescence, in 293T and SH-SY5Y cell lines, respectively...
2017: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/28922260/increased-risk-of-inflammatory-bowel-disease-in-a-population-based-cohort-study-of-patients-with-hirschsprung-disease
#4
Anna Löf Granström, Leila Amin, Henrik Arnell, Tomas Wester
OBJECTIVES: Hirschsprung disease (HSCR) has previously been associated with inflammatory bowel disease (IBD). There are no data to show how common this association is. The aim of this study was to assess the risk of IBD in individuals with HSCR in a population-based cohort. METHODS: This was a nationwide, population-based cohort study. The study exposure was HSCR and the study outcome was IBD. The cohort included all individuals with HSCR registered in the Swedish National Patient Register between 1964-2013 and ten age- and sex-matched controls per patient, randomly selected from the Swedish Population Register...
September 16, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28920022/familial-near-total-intestinal-aganglionosis
#5
Hidouri Saida, Zitouni Hayet, Chahed Jamila, Mosbahi Sana, Belhassen Samia, Ksiaa Amine, Hmida Badii, Krichene Imed, Sahnoun Lassad, Mekki Mongi, Belguith Mohsen, Nouri Abdellatif
Near total aganglionosis represents the most extreme and rare form of Hirschsprung's disease. It can affect more than one member of family. We report three cases of near total intestinal aganglionosis in a family presenting with intestinal obstruction at birth. All of them were operated and a jejunostomy was performed. Outcome was dismal.
July 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28919319/a-population-based-description-of-familial-clustering-of-hirschsprung-s-disease
#6
Craig C Teerlink, Ryan Bernhisel, Lisa A Cannon-Albright, Michael D Rollins
BACKGROUND: Familial recurrence of Hirschsprung's disease (HSCR) is well documented, and risk estimates for relatives have been reported from various populations. We describe the familial clustering of HSCR cases using well-established unbiased familial aggregation techniques within the context of a population genealogy. METHODS: Patients included 264 HSCR cases identified using ICD-9 diagnosis coding from the two largest healthcare providers in Utah who also had linked genealogy data...
September 1, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28916047/anorectal-malformation-hirschsprung-s-disease-a-cross-sectional-comparison-of-quality-of-life-and-bowel-function-to-healthy-controls
#7
Shireen Anne Nah, Caroline C P Ong, Seyed Ehsan Saffari, Lin Yin Ong, Te-Lu Yap, Yee Low, Anette S Jacobsen
BACKGROUND: Patients with anorectal malformation (ARM) and Hirschsprung's disease (HD) face long-term disturbance in bowel function even after definitive surgery. This study evaluates the quality of life (QOL) of patients with ARM and HD, and compares them to healthy controls using self-report questionnaires. METHODOLOGY: A prospective study was performed recruiting patients with ARM or HD from September 2013 to December 2014 who had primary surgery done in our institution at least 2 years prior to participation...
August 25, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28910873/-differential-expression-and-clinical-significance-of-calretinin-in-total-colonic-aganglionosis
#8
L Q Ke, J Huang, L L Liu, M J Huang, Q Zhang, J C Wang, W Zhang
Objective: To evaluate the differential calretinin immunostaining in different segments of total colonic aganglionosis and its utility in the diagnosis. Methods: Nine specimens including ileum and colon segments were obtained from 9 patients with total colonic aganglionosis (TCA), from 2010 to 2016 year, in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology. Another 9 ganglionic specimens including the same segments from patients with non-Hirschsprung disease (non-HD) patients were collected as control...
September 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28901937/advances-in-paediatric-gastroenterology
#9
REVIEW
Paul K H Tam, Patrick H Y Chung, Shawn D St Peter, Christopher P Gayer, Henri R Ford, Greta C H Tam, Kenneth K Y Wong, Mikko P Pakarinen, Mark Davenport
Recent developments in paediatric gastrointestinal surgery have focused on minimally invasive surgery, the accumulation of high-quality clinical evidence, and scientific research. The benefits of minimally invasive surgery for common disorders like appendicitis and hypertrophic pyloric stenosis are all supported by good clinical evidence. Although minimally invasive surgery has been extended to neonatal surgery, it is difficult to establish its role for neonatal disorders such as oesophageal atresia and biliary atresia through clinical trials because of the rarity of these disorders...
September 9, 2017: Lancet
https://www.readbyqxmd.com/read/28899900/ret-receptor-tyrosine-kinase-sustains-proliferation-and-tissue-maturation-in-intestinal-epithelia
#10
Daniel Perea, Jordi Guiu, Bruno Hudry, Chrysoula Konstantinidou, Alexandra Milona, Dafni Hadjieconomou, Thomas Carroll, Nina Hoyer, Dipa Natarajan, Jukka Kallijärvi, James A Walker, Peter Soba, Nikhil Thapar, Alan J Burns, Kim B Jensen, Irene Miguel-Aliaga
Expression of the Ret receptor tyrosine kinase is a defining feature of enteric neurons. Its importance is underscored by the effects of its mutation in Hirschsprung disease, leading to absence of gut innervation and severe gastrointestinal symptoms. We report a new and physiologically significant site of Ret expression in the intestine: the intestinal epithelium. Experiments in Drosophila indicate that Ret is expressed both by enteric neurons and adult intestinal epithelial progenitors, which require Ret to sustain their proliferation...
September 12, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28893560/endoscopic-mucosal-resection-is-superior-to-rectal-suction-biopsy-for-analysis-of-enteric-ganglia-in-constipation-and-dysmotility
#11
Kenneth Barshop, Field F Willingham, William R Brugge, Lawrence R Zukerberg, Braden Kuo
BACKGROUND AND AIMS: Patients with chronic constipation or motility disorders may be referred for rectal suction biopsy (RSB) to rule out Hirschsprung's disease (HD). RSB may not be successful beyond infancy due to the increased thickness of rectal mucosa. Endoscopic mucosal resection (EMR) could improve the diagnostic yield for HD when compared with traditional RSB because of the larger and deeper samples acquired for analysis. METHODS: In this prospective, single-center study, patients referred for RSB were offered enrollment for concurrent EMR...
September 8, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28884210/mortality-in-swedish-patients-with-hirschsprung-disease
#12
Anna Löf Granström, Tomas Wester
PURPOSE: Hirschsprung disease (HSCR) has previously been associated with increased mortality. The aim of this study was to assess mortality in patients with Hirschsprung disease in a population-based cohort. METHODS: This was a nationwide, population-based cohort study. The study exposure was HSCR and the study outcome was death. The cohort included all individuals with HSCR registered in the Swedish National Patient Register between 1964 and 2013 and ten age- and sex-matched controls per patient, randomly selected from the Population Register...
September 7, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28855726/effects-of-nrg1-polymorphisms-on-hirschsprung-s-disease-susceptibility-a-meta-analysis
#13
Meng Jiang, Changli Li, Guoqing Cao, Dehua Yang, Xi Zhang, Li Yang, Shuai Li, Shao-Tao Tang
Substantial resources have been devoted to evaluate the relationship between NRG1 variants rs7835688 and rs16879552 and Hirschsprung's Disease (HSCR) but no consistency exists. This meta-analysis aimed to assess the association between the two SNPs and HSCR. PubMed, EMBASE, and Chinese Biological Medicine databases were searched for studies potentially eligible up to March, 2017. The summary odds ratios (ORs) with 95% CIs were calculated from different genetic models. Nine case-control studies (8 for both and 1 for rs16879552 only) involving 1984 HSCR patients and 4220 controls were identified...
August 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28837998/understanding-experiences-of-youth-growing-up-with-anorectal-malformation-or-hirschsprung-s-disease-to-inform-transition-care-a-qualitative-in-depth-interview-study
#14
Shireen Anne Nah, Caroline C P Ong, Desiree Lie, Vicknesan Jeyan Marimuttu, Julian Hong, Yap Te-Lu, Yee Low, Anette Sundfor Jacobsen
No abstract text is available yet for this article.
August 24, 2017: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#15
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28803163/-hirschsprung-associated-enterocolitis-observational-study-in-a-paediatric-emergency-care-unit
#16
Margarita Sellers, Clara Udaondo, Bárbara Moreno, Gonzalo Martínez-Alés, Jesús Díez, Leopoldo Martínez, María de Ceano-Vivas
INTRODUCTION: Hirschsprung-associated enterocolitis is a significant cause of morbidity and mortality in infants with Hirschsprung's disease. The fact that the symptoms are so variable and unspecific leads to a slow or incorrect diagnosis. The purpose of this study is to identify clinical factors associated with the diagnosis, as well as to evaluate the subsequent management of children with suspected Hirschsprung-associated enterocolitis in a paediatric emergency department. MATERIAL AND METHODS: A retrospective descriptive study was conducted on patients with Hirschsprung's disease who were seen in a paediatric emergency department between April 2011 and November 2015 due to clinical symptoms compatible with enterocolitis...
August 9, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28799195/sacral-nerve-stimulation-for-constipation-and-fecal-incontinence-in-children-long-term-outcomes-patient-benefit-and-parent-satisfaction
#17
P L Lu, I J N Koppen, D K Orsagh-Yentis, K Leonhart, E J Ambeba, K J Deans, P C Minneci, S Teich, K A Diefenbach, S A Alpert, M A Benninga, D Yacob, C Di Lorenzo
OBJECTIVE: To evaluate the long-term efficacy of sacral nerve stimulation (SNS) in children with constipation and describe patient benefit and parent satisfaction. METHODS: Using a prospective patient registry, we identified patients <21 years old with constipation treated with SNS for >2 years. We compared symptoms, medical treatment, PedsQL Gastrointestinal Symptom Scale (GSS), Fecal Incontinence Quality of Life Scale (FIQL), and Fecal Incontinence Severity Index (FISI) before SNS and at follow-up...
August 10, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28799054/identification-of-a-novel-variant-of-the-ret-proto-oncogene-in-a-novel-family-with-hirschsprung-s-disease
#18
Takafumi Kawano, Kazuyoshi Hosomichi, Ituro Inoue, Ryuichi Shimono, Shun Onishi, Kazuhiko Nakame, Tatsuru Kaji, Hiroshi Matsufuji, Satoshi Ieiri
PURPOSE: Hirschsprung's disease (HSCR) is a congenital disorder of the enteric nervous system characterized by the absence of ganglion cells in the Auerbach's and Meissner's plexuses. Although about 7% of cases are hereditary, the causal mutations have not been completely characterized. We encountered a novel family with inherited HSCR and screened them for causal mutations. METHODS: A Japanese family of five female patients and six unaffected individuals was subjected to a whole-exome analysis with a next-generation sequencer...
August 10, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28760457/critical-evaluation-of-the-hirschsprung-associated-enterocolitis-haec-score-a-multicenter-study-of-116-children-with-hirschsprung-disease
#19
Philip K Frykman, Sungjin Kim, Tomas Wester, Agneta Nordenskjöld, Akemi Kawaguchi, Thomas T Hui, Daniel H Teitelbaum, Anna L Granström, Andre Rogatko
OBJECTIVE: To identify the optimal clinical criteria to diagnose Hirschsprung-associated enterocolitis (HAEC) in children with Hirschsprung disease (HSCR). BACKGROUND: HAEC is the most common life-threatening complication in HSCR patients, yet the diagnostic criteria for HAEC remain unclear. The consensus-based HAEC scoring system was not validated using patient data, thereby making its diagnostic accuracy uncertain. METHODS: From 2009 to 2015, consecutive children with HSCR underwent retrospective evaluation of their medical records, and questionnaire-directed parent interviews to identify treatment of suspected HAEC episodes and the 16 clinical criteria in the HAEC score...
July 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28755898/comparison-of-hirschsprung-associated-enterocolitis-following-soave-and-duhamel-procedures
#20
Isidora Galuh Parahita, Akhmad Makhmudi, Gunadi
BACKGROUND: Hirschsprung-associated enterocolitis (HAEC) represents the primary cause of high morbidity and mortality in Hirschsprung disease (HSCR) patients. The most common surgical methods for HSCR are the Soave and Duhamel procedures. Therefore, we aimed to compare the HAEC frequency following the Soave and Duhamel procedures. METHODS: Medical records were retrospectively analyzed for patients who underwent the Soave and Duhamel pull-through at Dr. Sardjito Hospital, Indonesia from 2010 to 2015...
July 17, 2017: Journal of Pediatric Surgery
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